Canonical Allele Identifier: CA2838256113

Gene: MASP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030946T>C , CM000663.2:g.11030946T>C	GRCh38
NC_000001.10:g.11091003T>C , CM000663.1:g.11091003T>C	GRCh37
NC_000001.9:g.11013590T>C	NCBI36
NG_007289.1:g.21283A>G
NG_007289.2:g.21283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.983-64A>G	ENSP00000514717.1:n.983-64A>G
ENST00000700088.1:c.1088-64A>G	ENSP00000514787.1:n.1088-64A>G
ENST00000700089.1:c.1085-64A>G	ENSP00000514788.1:n.1085-64A>G
ENST00000700090.1:c.967-64A>G	ENSP00000514789.1:n.967-64A>G
ENST00000700091.1:c.890-64A>G	ENSP00000514790.1:n.890-64A>G
ENST00000700092.1:c.1101-98A>G	ENSP00000514791.1:n.1101-98A>G
ENST00000700093.1:c.1064-64A>G	ENSP00000514792.1:n.1064-64A>G
ENST00000700094.1:c.1096-64A>G	ENSP00000514793.1:n.1096-64A>G
ENST00000700095.1:c.1088-64A>G	ENSP00000514794.1:n.1088-64A>G
ENST00000700096.1:c.891-64A>G	ENSP00000514795.1:n.891-64A>G
ENST00000700097.1:c.1088-64A>G	ENSP00000514796.1:n.1088-64A>G
ENST00000700098.1:n.610-64A>G
ENST00000400897.8:c.1088-64A>G MANE Select	ENSP00000383690.3:n.1088-64A>G
ENST00000400897.7:c.1088-64A>G	ENSP00000383690.3:n.1088-64A>G
NM_006610.3:c.1088-64A>G	NP_006601.2:n.1088-64A>G
XR_001736931.1:n.1041-64A>G
XR_002958895.1:n.999-64A>G
NM_006610.4:c.1088-64A>G MANE Select	NP_006601.2:n.1088-64A>G